List of variants reported as pathogenic for Lipoic acid synthetase deficiency by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006859.4(LIAS):c.542A>T (p.Asp181Val)	rs1553934355	0.00001
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu)	rs869312808	0.00001
NM_006859.4(LIAS):c.746G>A (p.Arg249His)	rs144133667	0.00001
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer)	rs1553934069
NM_006859.4(LIAS):c.475_477delinsAAA (p.Glu159Lys)	rs869320760

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